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PLXNA1

plexin A1

HCNC Approved Symbol
PLXNA1 (HGNC:9099)
Genomic Coordinates
3:126,983,115 - 127,037,389 (3q21.3)
Synonyms
NOV, PLXN1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Dworschak-Punetha neurodevelopmental syndrome
619955AR

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the PLXNA1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Intellectual disability
 2 (100.0%)
Autistic behavior
 1 (50.0%)
Delayed speech and language development
 1 (50.0%)
Relative macrocephaly
 1 (50.0%)
Autistic features
 1 (50.0%)